Phenotype #0000355636
| Individual ID |
00470740 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., global psychomotor developmental delay; no failure to thrive; hypotonia; 30m-walk; speech single words; mild-moderate intellectual disability; no autism spectrum disorder; behaviour friendly, from time to time stubborn; no epilepsy; EEG pathological with lively focal excitability temporo-parieto-occipital right-sided; MRI unspecific flair-hyperintensity bilateral paratrigonal, two arachnoidal cysts; low frontal hairline, thick eyebrows with indicated synophrys, small cupped, rather deep-set ears, long eyelashes, small teeth with rather wide interdental distance; strabismus convergens, hyperopia; no skin lesions; no anomalies digits; short stature, relative macrocephaly (OFC 51cm); atrial septal defect type II, valvular and peripher pulmonal stenosis; normal kidney; no genital anomalies; no endocrine features |
| Age/Examination |
4y (4 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2025-12-08 15:51:34 +01:00 (CET) |
| Date last edited |
N/A |
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